Pediatric Hand-Heart Malformation Syndrome

Introduction to Pediatric Hand-Heart Malformation Syndrome Cardiac-limbsyndrome, also known as Holt-Oram syndrome, atrium-finger syndrome (atrio-digitalsyndrome), upper extremity cardiovascular syndrome, familial heart and upper limb defects , atrial dysplasia, atrial and dysplasia syndrome (atrio-digitaldysplasiasyndrome), etc., the disease is an autosomal dominant hereditary disease, with cardiovascular malformations, skeletal deformities as the main clinical features. basic knowledge Sickness ratio: 0.05% Susceptible people: children Mode of infection: non-infectious Complications: Infective endocarditis, cleft palate, hemangioma

Pediatric hand-heart malformation syndrome etiology

(1) Causes of the disease

Often family history, is an autosomal dominant hereditary disease.

(two) pathogenesis

1. Embryology factors The skeletal malformation of this disease occurs in the upper limbs with its embryological basis. The occurrence of upper limb buds and the primary differentiation process of the primary cardiovascular origination start from the 4th week of the embryo, and both are in 2 to 3 weeks. Internally completed, therefore, the upper limbs and the heart may be affected by certain factors at the same time. According to Gegenbaur's original wing theory, the ulna and its vicinity are equivalent to the trunk of the original fin line, and the tibia is one of the other four subsidiary lines, and It occurs before the ulna and then disappears, so the temporal bone is more susceptible. Because the lower limbs are later than the upper limbs, the lower limbs are not involved, which may help explain the reason why the temporal bones of this disease are more susceptible.

2. Genetic factors Generally believe that this disease is autosomal dominant, but there are also reports of single cases. Only a few people reported that there are tiny variations on the 16th chromosome of the patient, and most people prove that the patient's cells The karyotype is normal. In this symptom family, all congenital heart disease patients are accompanied by different degrees of upper limb malformation, while those with upper limb malformation may not have congenital heart disease, but the hereditary nature of the two generations is There is no difference, so they are regarded as patients with symptoms, and the chance of their offspring is about 50%.

3. Drugs affecting pregnancy taking anti-epileptic drugs within one month, can lead to fetal disease.

Pediatric hand-heart malformation syndrome prevention

This symptom is idiopathic, and it is an important problem to prevent the deformity of the offspring. The influence of acquired factors often leads to the exposure of genetic defects. The first 3 months of pregnancy is the differentiation and sensitive period of limb bud and primitive heart tube. Adverse stimuli of physical and chemical factors, trauma and medication should be noted, some drugs such as phenytoin, imipramine, reaction stop, etc. can cause upper limb or body deformity during pregnancy, radiation exposure, hypoxia, excessive vitamin A It can also be teratogenic and should be vigilant.

Preventive measures include carrier genetic testing, prenatal diagnosis, and selective abortion to prevent the birth of a child.

Conduct genetic counseling:

For families with a family history: genetic counseling can help adults with selective fertility. Non-patients in the patient's family can be properly married.

Pre-marital medical examination plays an active role in preventing birth defects. The size of the exercise depends on the examination items and contents, including the family history of the disease, the personal medical history of the individual, and the consultation of genetic diseases. Systemic birth defect screening is required during antenatal care during pregnancy, including regular ultrasound, serological screening, and chromosomal examination.

Pregnant women: medication during pregnancy should be guided by a doctor. Do a good job prenatal checkup. The patient must have a prenatal diagnosis for the child. Avoid hazards as much as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, and toxic and hazardous heavy metals. 3 months before pregnancy is the differentiation and sensitive period of limb bud and original heart tube, should pay attention to avoid the bad stimulation of mental and physical and chemical factors, some drugs such as phenytoin, imipramine, reaction stop, etc. can produce upper limbs during pregnancy Or deformity of the body.

Pediatric hand-heart malformation syndrome complications Complications Infective endocarditis, ruptured hemangioma

Can occur heart failure, complicated with infective endocarditis, loss of palm function, may be associated with high bow, cleft palate, short stature, facial hypoplasia, facial hemangioma, bilateral pupil size, external auditory canal occlusion and gastrointestinal Malformations such as the tract and genitourinary system.

Pediatric hand-heart malformation syndrome symptoms Common symptoms Thumb only soft tissue... Thumb three-section heart malformation short systolic murmur dysfunction ventricular septal defect ventricular septal defect vascular malformation

1. Cardiovascular malformation This disease is associated with cardiovascular abnormalities accounted for 60% to 70%. Patients with the same family have different cardiac malformations. The most common cardiovascular malformation is atrial septal defect (multi-line II type, also I-well and II-well coexisting) and ventricular septal defect, followed by cardiac conduction system abnormalities and cardiomyopathy, and patent ductus arteriosus, large vessel transposition, coronary artery abnormalities, mitral stenosis or prolapse, pulmonary stenosis, Tricuspid atresia and the like are rare, and many symptoms and signs of congenital heart disease can occur clinically, such as palpitations, shortness of breath and fatigue. In severe cases, congestive heart failure and concurrent infective endocarditis may occur. The main signs are The left sternal border 2 to 3 or 3 to 4 intercostal tract systolic murmur, accompanied by tremor, pulmonary artery second tone hyperthyroidism and division, pulmonary stenosis systolic murmur or tricuspid valve diastolic murmur.

2. Skeletal, muscular malformations Skeletal malformations can affect the bilateral upper limbs. The left side is heavier, and the variation or lack of the forearm, wrist and temporal bones is the most common. The temporal carpal bone can be close to the base of the first metacarpal bone due to ossification delay. The midline, juxtaposed with other metacarpals, the fish can disappear. Because the thumb is at the same level as the other limbs, the palm function is lost. The thumb variation is a characteristic change of the disease, often a subluxation, and refers to the thumb and the three corners. Ulnar, bifurcated, short or absent or the thumb only has soft tissue and no bone.

Pediatric hand-heart malformation syndrome examination

Most of the blood, urine, and routine examinations were found to be abnormal, and peripheral blood leukocytes were significantly increased when infected.

Echocardiography, chest X-ray, cardiovascular angiography, X-ray examination can be found in a variety of cardiovascular malformations and skeletal deformities, a small number of genitourinary, gastrointestinal malformations.

Diagnosis and identification of hand-heart malformation syndrome in children

1. Family survey conducted a family survey of congenital heart disease and other limbs, including atrial dysplasia and defects, including atrial septal defect, and a family of four generations of 9 people.

2. Echocardiography, cardiac catheterization, electrocardiogram, X-ray, dye dilution curve, etc. to determine the type of congenital heart disease.

3. Skeletal X-ray and chromosome examination.

The condition should be differentiated from Ma Fang syndrome, Fanconi anemia, tongue-like dementia and other upper limb-heart malformations caused by chromosomal abnormalities.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.